Autosomal dominant variants in FOXJ1 causing primary ciliary dyskinesia in two patients with obstructive hydrocephalus

Autosomal dominant variants in FOXJ1 causing primary ciliary dyskinesia in two patients with obstructive hydrocephalus

Abstract Background Primary ciliary dyskinesia (PCD) is a mostly autosomal recessive, genetic disease of abnormal motile cilia function, resulting in bronchiectasis, infertility, organ laterality defects, and chronic otolaryngology disease. Though motile, ependymal cilia influencing cerebrospinal fl...

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Bibliographic Details
Main Authors: Adam J. Shapiro, Kimberley Kaspy, M. Leigh Ann Daniels, Jaclyn R. Stonebraker, Van‐Hung Nguyen, Lyne Joyal, Michael R. Knowles, Maimoona A. Zariwala
Format: Article
Language:English
Published: Wiley 2021-07-01
Series:Molecular Genetics & Genomic Medicine
Online Access:https://doi.org/10.1002/mgg3.1726

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